Polymorphisms of cancer-related genes and risk of multipleprimary malignancies involving colorectal cancer

Authors: Peiguo Cao, LI YU, Anshan Wu, Jingjing LI, Ling Liu, Chunlan Liu, Jianda Zhou, KE CAO, Chengxian Guo

Abstract: Background/aim: This study aimed to investigate the relationship between single nucleotide polymorphisms (SNPs) of cancer-related genes and the risk of multiple primary malignancies involving colorectal cancer.Materials and methods: We collected tissue samples from 22 multiple primary cancer patients with primary colorectal cancer and performed genotyping assay for 116 SNP loci from 62 genes encoding peptides functioning in various signaling pathways using the DNA MassARRAY system. The chi-square test was used to compare the differences in base frequencies between patients and a control Chinese population from HapMap through the NCBI database.Results: No significant differences in frequencies were detected for 81 SNPs (P > 0.05), while serious frequency differences were observed for 35 SNPs from 31 genes (P < 0.05), which included ERCC6 (rs2228526), ERCC1 (rs3212986), CASP8 (rs3834129, rs3769818), and others presented. Five of these SNPs were previously reported to be associated with the pathogenesis of colorectal cancer.Conclusion: The 35 SNPs from 31 genes may be associated with the risk of multiple primary malignancies involving colorectal cancer.

Keywords: Colorectal cancer, multiple primary malignancy, HapMap database, Chinese population, polymorphisms, risk

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